Works matching AU Dionisi Vici, Carlo
Results: 158
Progressive involvement of cardiac conduction system in paediatric patients with Kearns-Sayre syndrome: how to predict occurrence of complete heart block and sudden cardiac death?
- Published in:
- 2021
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- Publication type:
- journal article
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
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- Human Mutation, 2012, v. 33, n. 12, p. 1656, doi. 10.1002/humu.22155
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- Publication type:
- Article
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase ( IDUA) alleles.
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- Human Mutation, 2011, v. 32, n. 6, p. E2189, doi. 10.1002/humu.21479
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- Publication type:
- Article
RFT1 deficiency in three novel CDG patients.
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- Human Mutation, 2009, v. 30, n. 10, p. 1428, doi. 10.1002/humu.21085
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- Publication type:
- Article
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study.
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- Human Mutation, 2009, v. 30, n. 5, p. 741, doi. 10.1002/humu.20930
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- Publication type:
- Article
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
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- Human Mutation, 2009, v. 30, n. 1, p. 93, doi. 10.1002/humu.20833
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- Publication type:
- Article
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
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- Human Mutation, 2004, v. 24, n. 4, p. 312, doi. 10.1002/humu.20085
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- Publication type:
- Article
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.
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- Human Mutation, 2000, v. 16, n. 3, p. 277, doi. 10.1002/1098-1004(200009)16:3<277::AID-HUMU25>3.0.CO;2-V
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- Publication type:
- Article
Use of Antibiotics in Preterm Newborns.
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- Antibiotics (2079-6382), 2022, v. 11, n. 9, p. 1142, doi. 10.3390/antibiotics11091142
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- Publication type:
- Article
Therapeutic Drug Monitoring of Amphotericin-B in Plasma and Peritoneal Fluid of Pediatric Patients after Liver Transplantation: A Case Series.
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- Antibiotics (2079-6382), 2022, v. 11, n. 5, p. 640, doi. 10.3390/antibiotics11050640
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- Publication type:
- Article
Short-term survival of hyperammonemic neonates treated with dialysis.
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- Pediatric Nephrology, 2015, v. 30, n. 5, p. 839, doi. 10.1007/s00467-014-2945-x
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- Publication type:
- Article
Extracorporeal dialysis in neonatal hyperammonemia: modalities and prognostic indicators.
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- Pediatric Nephrology, 2001, v. 16, n. 11, p. 862, doi. 10.1007/s004670100702
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- Publication type:
- Article
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 1, p. 495, doi. 10.3390/ijms25010495
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- Publication type:
- Article
Therapeutic Drug Monitoring Is a Feasible Tool to Personalize Drug Administration in Neonates Using New Techniques: An Overview on the Pharmacokinetics and Pharmacodynamics in Neonatal Age.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 16, p. 5898, doi. 10.3390/ijms21165898
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- Publication type:
- Article
Plasma Levels of Homocysteine and Cysteine Increased in Pediatric NAFLD and Strongly Correlated with Severity of Liver Damage.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 11, p. 21202, doi. 10.3390/ijms151121202
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- Publication type:
- Article
The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective.
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- Journal of Clinical Medicine, 2024, v. 13, n. 22, p. 6981, doi. 10.3390/jcm13226981
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- Publication type:
- Article
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 8, p. 1533, doi. 10.1002/acn3.50821
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- Publication type:
- Article
Liver transplantation in an infant with cerebrotendinous xanthomatosis, cholestasis, and rapid evolution of liver failure.
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- Pediatric Transplantation, 2022, v. 26, n. 6, p. 1, doi. 10.1111/petr.14318
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- Publication type:
- Article
Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease).
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- Pediatric Transplantation, 2002, v. 6, n. 5, p. 427, doi. 10.1034/j.1399-3046.2002.02026.x
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- Publication type:
- Article
Hypoglycaemia Metabolic Gene Panel Testing.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.826167
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- Publication type:
- Article
Vici syndrome: a review.
- Published in:
- 2016
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- Publication type:
- journal article
Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.
- Published in:
- 2015
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- Publication type:
- journal article
Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y
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- Publication type:
- Article
The hyperornithinemia-hyperammonemiahomocitrullinuria syndrome.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0242-9
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- Publication type:
- Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0130-8
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- Publication type:
- Article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0107-7
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- Publication type:
- Article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
- Published in:
- 2014
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- Publication type:
- journal article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Recommendations for the management of tyrosinaemia type 1.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-8
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- Publication type:
- Article
COG5-CDG: expanding the clinical spectrum.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 1, doi. 10.1186/1750-1172-7-94
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- Publication type:
- Article
COG5-CDG: expanding the clinical spectrum.
- Published in:
- 2012
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- Publication type:
- journal article
Suggested guidelines for the diagnosis and management of urea cycle disorders.
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- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 32, doi. 10.1186/1750-1172-7-32
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- Publication type:
- Article
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 13, p. 8141, doi. 10.3390/ijerph19138141
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- Publication type:
- Article
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
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- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 4, p. 1659, doi. 10.3390/ijerph18041659
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- Publication type:
- Article
A False-Positive Case of Methylmalonic Aciduria by Tandem Mass Spectrometry Newborn Screening Dependent on Maternal Malnutrition in Pregnancy.
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- International Journal of Environmental Research & Public Health, 2020, v. 17, n. 10, p. 3601, doi. 10.3390/ijerph17103601
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- Publication type:
- Article
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
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- Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z
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- Publication type:
- Article
Cobalamin C defect presenting as severe neonatal hyperammonemia.
- Published in:
- 2011
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- Publication type:
- journal article
Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1145111
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- Publication type:
- Article
Thiamine Deficiency in a Developed Country: Acute Lactic Acidosis in Two Neonates Due to Unsupplemented Parenteral Nutrition.
- Published in:
- 2016
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- Publication type:
- journal article
Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia.
- Published in:
- Annals of Neurology, 2003, v. 54, n. s6, p. S56
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- Publication type:
- Article
Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy.
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- Italian Journal of Pediatrics, 2024, v. 50, n. 1, p. 1, doi. 10.1186/s13052-024-01782-y
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- Publication type:
- Article
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
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- Publication type:
- Article
Propionic Acidemia, Methylmalonic Acidemia, and Cobalamin C Deficiency: Comparison of Untargeted Metabolomic Profiles.
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- Metabolites (2218-1989), 2024, v. 14, n. 8, p. 428, doi. 10.3390/metabo14080428
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- Publication type:
- Article
The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy.
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- Metabolites (2218-1989), 2020, v. 10, n. 12, p. 504, doi. 10.3390/metabo10120504
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- Publication type:
- Article
A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition.
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- Metabolites (2218-1989), 2020, v. 10, n. 2, p. 44, doi. 10.3390/metabo10020044
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- Publication type:
- Article
Pharmacokinetic Evaluation of Eltrombopag in ITP Pediatric Patients.
- Published in:
- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.772873
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- Publication type:
- Article
Dysbiosis, Host Metabolism, and Non-communicable Diseases: Trialogue in the Inborn Errors of Metabolism.
- Published in:
- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.716520
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- Publication type:
- Article
Renal Mitochondrial Cytopathies.
- Published in:
- 2011
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- Publication type:
- Journal Article
Renal Mitochondrial Cytopathies.
- Published in:
- International Journal of Nephrology, 2011, p. 1, doi. 10.4061/2011/609213
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- Publication type:
- Article
Clinical utility gene card for: Vici Syndrome.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.142
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- Publication type:
- Article